Search Results - "Rolland, O."

NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients by Masurel-Paulet, A., Poggi-Bach, J., Rolland, M.-O., Bernard, O., Guffon, N., Dobbelaere, D., Sarles, J., de Baulny, H. Ogier, Touati, G.

“…Summary We describe a retrospective study of long-term outcome of 46 patients treated and regularly followed in France with…”
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Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome by Ammouri, W., Cuisset, L., Rouaghe, S., Rolland, M.-O., Delpech, M., Grateau, G., Ravet, N.

“…Objective. The hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) was originally defined by the presence of a high serum level of immunoglobulin D…”
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Building materials as intrinsic sources of sulphate: A hidden face of salt weathering of historical monuments investigated through multi-isotope tracing (B, O, S) by Kloppmann, W., Bromblet, P., Vallet, J.M., Vergès-Belmin, V., Rolland, O., Guerrot, C., Gosselin, C.

“…Sulphate neoformation is a major factor of degradation of stone monuments. Boron, sulphur and oxygen isotope signatures were investigated for five French…”
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Soluble salt sources in medieval porous limestone sculptures: A multi-isotope (N, O, S) approach by Kloppmann, W., Rolland, O., Proust, E., Montech, A.T.

“…The sources and mechanisms of soluble salt uptake by porous limestone and the associated degradation patterns were investigated for the life-sized 15th century…”
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A generalised model for acoustic and entropic transfer function of nozzles with losses by De Domenico, Francesca, Rolland, Erwan O., Hochgreb, Simone

“…We investigate the low frequency transfer functions for acoustic and entropic perturbations through nozzles and nozzle guide vanes. Previous theories rely on…”
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Detection of direct and indirect noise generated by synthetic hot spots in a duct by De Domenico, Francesca, Rolland, Erwan O., Hochgreb, Simone

“…Sound waves in a combustor are generated from fluctuations in the heat release rate (direct noise) or the acceleration of entropy, vorticity or compositional…”
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Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy by Conter, C., Rolland, M. O., Cheillan, D., Bonnet, V., Maire, I., Froissart, R.

“…Summary Glycine encephalopathy, or nonketotic hyperglycinaemia (NKH; McKusick 238300) is a severe autosomal recessive disease due to a defect in the glycine…”
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Atypical MRI findings in Canavan disease: a patient with a mild course by Yalcinkaya, C, Benbir, G, Salomons, G S, Karaarslan, E, Rolland, M O, Jakobs, C, van der Knaap, M S

“…Canavan disease is a severe, progressive leukodystrophy with an autosomal recessive inheritance, caused by aspartoacylase (ASPA) deficiency. The characteristic…”
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Origin of salts in stone monument degradation using sulphur and oxygen isotopes: First results of the Bourges cathedral (France) by Vallet, J.M., Gosselin, C., Bromblet, P., Rolland, O., Vergès-Belmin, V., Kloppmann, W.

“…The crystallisation of soluble sulphate salts is one of the most important factors of stone monument degradation. The origin of these salts is variable:…”
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First‐trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria by Rolland, M. O., Cuisset, L., Le Bozec, J., Guffon, N., VianeySaban, C.

“…Summary Prenatal diagnosis was offered to a family at risk of mevalonic aciduria. A chorionic villus sample was obtained and both mevalonate kinase activity…”
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Ultrathin Coatings by Multiple Polyelectrolyte Adsorption/Surface Activation (CoMPAS) by Koetse, M, Laschewsky, A, Mayer, B, Rolland, O, Wischerhoff, E

“…A new versatile method for the preparation of thin polymer coatings is presented. It is based on the adsorption of reactive polyelectrolytes by electrostatic…”
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Fetal type IV glycogen storage disease: Clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family by L'herminé‐Coulomb, A., Beuzen, F., Bouvier, R., Rolland, M.O., Froissart, R., Menez, F., Audibert, F., Labrune, P.

“…We report on a family of three consecutive fetuses affected by type IV glycogen storage disease (GSD IV). In all cases, cervical cystic hygroma was observed on…”
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Common resistance mechanisms to deoxynucleoside analogues in variants of the human erythroleukaemic line K562 by Dumontet, Charles, Fabianowska‐Majewska, Krystyna, Mantincic, Danko, Callet Bauchu, Evelyne, Tigaud, Isabelle, Gandhi, Varsha, Lepoivre, Michel, Peters, Godefridus J., Rolland, Marie Odile, Wyczechowska, Dorota, Fang, Xiao, Gazzo, Sophie, Voorn, Daphne A., Vanier‐Viornery, Armelle, Mackey, John

“…Resistant variants of the human leukaemic line K562 were developed using selection with the deoxynucleoside analogues cytosine arabinoside,…”
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Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease by Tacke, U, Olbrich, H, Sass, J O, Fekete, A, Horvath, J, Ziyeh, S, Kleijer, W J, Rolland, M-O, Fisher, S, Payne, S, Vargiami, E, Zafeiriou, D I, Omran, H

“…Canavan disease is characterised as a rare, neurodegenerative disease that usually causes death in early childhood. It is an autosomal recessive disorder due…”
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Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia by Neuberger, J. M., Schweitzer, S., Rolland, M.‐O., Burghard, R.

“…A 6‐month‐old girl presented with hypotonia and mild psychomotor retardation. Subsequently, an atypical manifestation of a nonketotic hyperglycinaemia was…”
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Combined liver-kidney transplantation in primary hyperoxaluria type 1 by Cochat, P, Gaulier, J M, Koch Nogueira, P C, Feber, J, Jamieson, N V, Rolland, M O, Divry, P, Bozon, D, Dubourg, L

“…Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder characterised by an increased urinary excretion of calcium oxalate, leading to…”
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Clinical approach to inherited peroxisomal disorders: a series of 27 patients by Baumgartner, M R, Poll-The, B T, Verhoeven, N M, Jakobs, C, Espeel, M, Roels, F, Rabier, D, Levade, T, Rolland, M O, Martinez, M, Wanders, R J, Saudubray, J M

“…To illustrate the clinical and biochemical heterogeneity of peroxisomal disorders, we report our experience with 27 patients seen personally between 1982 and…”
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Seventeen novel mutations that cause profound biotinidase deficiency by Wolf, B, Jensen, K, Hüner, G, Demirkol, M, Baykal, T, Divry, P, Rolland, M.-O, Perez-Cerdá, C, Ugarte, M, Straussberg, R, Basel-Vanagaite, L, Baumgartner, E.R, Suormala, T, Scholl, S, Das, A.M, Schweitzer, S, Pronicka, E, Sykut-Cegielska, J

“…We report 17 novel mutations that cause profound biotinidase deficiency. Six of the mutations are due to deletions, whereas the remaining 11 mutations are…”
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False‐positive results in neonatal screening for cystic fibrosis based on a three‐stage protocol (IRT/DNA/IRT): Should we adjust IRT cut‐off to ethnic origin? by Cheillan, D., Vercherat, M., Chevalier‐Porst, F., Charcosset, M., Rolland, M. O., Dorche, C.

“…Summary Since 1979, newborn screening for cystic fibrosis (CF) has been possible by measuring immunoreactive tryspinogen (IRT) in blood spots. In France, a…”
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Reversal of Early Neurologic and Neuroradiologic Manifestations of X-Linked Adrenoleukodystrophy by Bone Marrow Transplantation by Aubourg, Patrick, Blanche, Stéphane, Jambaqué, Isabelle, Rocchiccioli, Francis, Kalifa, Gabriel, Naud-Saudreau, Catherine, Rolland, Marie-Odile, Debré, Mariane, Chaussain, Jean-Louis, Griscelli, Claude, Fischer, Alain, Bougnères, Pierre-François

“…X-LINKED adrenoleukodystrophy is an inherited peroxisomal disease caused by a defective gene located within the Xq28 region of the X chromosome. 1 Childhood…”
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